Rheumatoid arthritis susceptibility loci at chromosomes 10p15, 12q13 and 22q13

被引：120

作者：

Barton, Anne ^{[1
]}

Thomson, Wendy ^{[1
]}

Ke, Xiayi ^{[1
]}

Eyre, Steve ^{[1
]}

Hinks, Anne ^{[1
]}

Bowes, John ^{[1
]}

Plant, Darren ^{[1
]}

Gibbons, Laura J. ^{[1
]}

Wilson, Anthony G. ^{[2
]}

Bax, Deborah E. ^{[2
]}

Morgan, Ann W. ^{[3
]}

Emery, Paul ^{[3
]}

Steer, Sophia ^{[4
]}

Hocking, Lynne ^{[5
]}

Reid, David M. ^{[5
]}

Wordsworth, Paul ^{[6
]}

Harrison, Pille ^{[6
]}

Worthington, Jane ^{[1
]}

机构：

[1] Univ Manchester, Arthritis Res Campaign Epidemiol Unit, Manchester, Lancs, England

[2] Univ Sheffield, Sch Med & Biomed Sci, Sheffield S10 2JF, S Yorkshire, England

[3] Chapel Allerton Hosp, Acad Unit Musculoskeletal Dis, Leeds LS7 4SA, W Yorkshire, England

[4] Kings Coll Hosp London, Natl Hlth Serv Fdn Trust, London SE5 9RS, England

[5] Univ Aberdeen, Dept Med & Therapeut, Bone Res Grp, Aberdeen AB25 2ZD, Scotland

[6] Univ Oxford, Inst Musculoskeletal Sci, Botnar Res Ctr, Oxford OX3 7LD, England

来源：

NATURE GENETICS | 2008年 / 40卷 / 10期

基金：

英国医学研究理事会; 英国惠康基金;

关键词：

D O I：

10.1038/ng.218

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The WTCCC study identified 49 SNPs putatively associated with rheumatoid arthritis at P = 1 x 10(-4) - 1 x 10(-5) (tier 3). Here we show that three of these SNPs, mapping to chromosome 10p15 (rs4750316), 12q13 (rs1678542) and 22q13 (rs3218253), are also associated (trend P = 4 x 10(-5), P = 4 x 10(-4) and P = 4 x 10(-4), respectively) in a validation study of 4,106 individuals with rheumatoid arthritis and an expanded reference group of 11,238 subjects, confirming them as true susceptibility loci in individuals of European ancestry.

引用

页码：1156 / 1159

页数：4

共 12 条

[1] Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility [J].

Barton, Anne ;

Thomson, Wendy ;

Ke, Xiayi ;

Eyre, Steve ;

Hinks, Anne ;

Bowes, John ;

Gibbons, Laura ;

Plant, Darren ;

Wilson, Anthony G. ;

Marinou, Ioanna ;

Morgan, Ann ;

Emery, Paul ;

Steer, Sophia ;

Hocking, Lynne ;

Reid, David M. ;

Wordsworth, Paul ;

Harrison, Pille ;

Worthington, Jane .

HUMAN MOLECULAR GENETICS, 2008, 17 (15) :2274-2279

[2] Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls [J].

Burton, Paul R. ;

Clayton, David G. ;

Cardon, Lon R. ;

Craddock, Nick ;

Deloukas, Panos ;

Duncanson, Audrey ;

Kwiatkowski, Dominic P. ;

McCarthy, Mark I. ;

Ouwehand, Willem H. ;

Samani, Nilesh J. ;

Todd, John A. ;

Donnelly, Peter ;

Barrett, Jeffrey C. ;

Davison, Dan ;

Easton, Doug ;

Evans, David ;

Leung, Hin-Tak ;

Marchini, Jonathan L. ;

Morris, Andrew P. ;

Spencer, Chris C. A. ;

Tobin, Martin D. ;

Attwood, Antony P. ;

Boorman, James P. ;

Cant, Barbara ;

Everson, Ursula ;

Hussey, Judith M. ;

Jolley, Jennifer D. ;

Knight, Alexandra S. ;

Koch, Kerstin ;

Meech, Elizabeth ;

Nutland, Sarah ;

Prowse, Christopher V. ;

Stevens, Helen E. ;

Taylor, Niall C. ;

Walters, Graham R. ;

Walker, Neil M. ;

Watkins, Nicholas A. ;

Winzer, Thilo ;

Jones, Richard W. ;

McArdle, Wendy L. ;

Ring, Susan M. ;

Strachan, David P. ;

Pembrey, Marcus ;

Breen, Gerome ;

St Clair, David ;

Caesar, Sian ;

Gordon-Smith, Katherine ;

Jones, Lisa ;

Fraser, Christine ;

Green, Elain K. .

NATURE, 2007, 447 (7145) :661-678

[3] Evidence of kinesin heavy chain (KIF5A) involvement in pure hereditary spastic paraplegia [J].

Fichera, M ;

Lo Giudice, M ;

Falco, M ;

Sturnio, M ;

Amata, S ;

Calabrese, O ;

Bigoni, S ;

Calzolari, E ;

Neri, M .

NEUROLOGY, 2004, 63 (06) :1108-1110

[4] Protein kinase C theta (PKCθ):: A key player in T cell life and death [J].

Hayashi, Keitaro ;

Altman, Amnon .

PHARMACOLOGICAL RESEARCH, 2007, 55 (06) :537-544

[5] Refining the complex rheumatoid arthritis phenotype based on specificity of the HLA-DRB1 shared epitope for antibodies to citrullinated proteins [J].

Huizinga, TWJ ;

Amos, CI ;

van der Helm-van Mil, AHM ;

Chen, W ;

van Gaalen, FA ;

Jawaheer, D ;

Schreuder, GMT ;

Wener, M ;

Breedveld, FC ;

Ahmad, N ;

Lum, RF ;

de Vries, RRP ;

Gregersen, PK ;

Toes, REM ;

Criswell, LA .

ARTHRITIS AND RHEUMATISM, 2005, 52 (11) :3433-3438

[6] Both integrated and differential regulation of components of the IL-2/IL-2 receptor system [J].

Kim, Hyoung Pyo ;

Imbert, Jean ;

Leonard, Warren J. .

CYTOKINE & GROWTH FACTOR REVIEWS, 2006, 17 (05) :349-366

[7] Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma [J].

Moffatt, Miriam F. ;

Kabesch, Michael ;

Liang, Liming ;

Dixon, Anna L. ;

Strachan, David ;

Heath, Simon ;

Depner, Martin ;

von Berg, Andrea ;

Bufe, Albrecht ;

Rietschel, Ernst ;

Heinzmann, Andrea ;

Simma, Burkard ;

Frischer, Thomas ;

Willis-Owen, Saffron A. G. ;

Wong, Kenny C. C. ;

Illig, Thomas ;

Vogelberg, Christian ;

Weiland, Stephan K. ;

von Mutius, Erika ;

Abecasis, Goncalo R. ;

Farrall, Martin ;

Gut, Ivo G. ;

Lathrop, G. Mark ;

Cookson, William O. C. .

NATURE, 2007, 448 (7152) :470-U5

[8] Branches of the B cell antigen receptor pathway are directed by protein conduits Bam32 and Carma1 [J].

Niiro, H ;

Clark, EA .

IMMUNITY, 2003, 19 (05) :637-640

[9] Two independent alleles at 6q23 associated with risk of rheumatoid arthritis [J].

Plenge, Robert M. ;

Cotsapas, Chris ;

Davies, Leela ;

Price, Alkes L. ;

Bakker, Paul I. Wde ;

Maller, Julian ;

Pe'er, Itsik ;

Burtt, Noel P. ;

Blumenstiel, Brendan ;

DeFelice, Matt ;

Parkin, Melissa ;

Barry, Rachel ;

Winslow, Wendy ;

Healy, Claire ;

Graham, Robert R. ;

Neale, Benjamin M. ;

Izmailova, Elena ;

Roubenoff, Ronenn ;

Parker, Alexander N. ;

Glass, Roberta ;

Karlson, Elizabeth W. ;

Maher, Nancy ;

Hafler, David A. ;

Lee, David M. ;

Seldin, Michael F. ;

Remmers, Elaine F. ;

Lee, Annette T. ;

Padyukov, Leonid ;

Alfredsson, Lars ;

Coblyn, Jonathan ;

Weinblatt, Michael E. ;

Gabriel, Stacey B. ;

Purcell, Shaun ;

Klareskog, Lars ;

Gregersen, Peter K. ;

Shadick, Nancy A. ;

Daly, Mark J. ;

Altshuler, David .

NATURE GENETICS, 2007, 39 (12) :1477-1482

[10] Common variants at CD40 and other loci confer risk of rheumatoid arthritis [J].

Raychaudhuri, Soumya ;

Remmers, Elaine F. ;

Lee, Annette T. ;

Hackett, Rachel ;

Guiducci, Candace ;

Burtt, Noel P. ;

Gianniny, Lauren ;

Korman, Benjamin D. ;

Padyukov, Leonid ;

Kurreeman, Fina A. S. ;

Chang, Monica ;

Catanese, Joseph J. ;

Ding, Bo ;

Wong, Sandra ;

Mil, Annette H. M. van der Helm-van ;

Neale, Benjamin M. ;

Coblyn, Jonathan ;

Cui, Jing ;

Tak, Paul P. ;

Wolbink, Gert Jan ;

Crusius, J. Bart A. ;

van der Horst-Bruinsma, Irene E. ;

Criswell, Lindsey A. ;

Amos, Christopher I. ;

Seldin, Michael F. ;

Kastner, Daniel L. ;

Ardlie, Kristin G. ;

Alfredsson, Lars ;

Costenbader, Karen H. ;

Altshuler, David ;

Huizinga, Tom W. J. ;

Shadick, Nancy A. ;

Weinblatt, Michael E. ;

de Vries, Niek ;

Worthington, Jane ;

Seielstad, Mark ;

Toes, Rene E. M. ;

Karlson, Elizabeth W. ;

Begovich, Ann B. ;

Klareskog, Lars ;

Gregersen, Peter K. ;

Daly, Mark J. ;

Plenge, Robert M. .

NATURE GENETICS, 2008, 40 (10) :1216-1223

← 1 2 →